{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T17:07:25Z","timestamp":1790701645763,"version":"4.1.0"},"reference-count":28,"publisher":"The Endocrine Society","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2008,2,1]]},"DOI":"10.1210\/jc.2007-1115","type":"journal-article","created":{"date-parts":[[2007,12,4]],"date-time":"2007-12-04T21:52:18Z","timestamp":1196805138000},"page":"339-343","source":"Crossref","is-referenced-by-count":43,"title":["XX Maleness and XX True Hermaphroditism in<i>SRY<\/i>-Negative Monozygotic Twins: Additional Evidence for a Common Origin"],"prefix":"10.1210","volume":"93","author":[{"given":"Andre\u0301a Trevas","family":"Maciel-Guerra","sequence":"first","affiliation":[{"name":"Grupo Interdisciplinar de Estudos da Determinac\u0327a\u0303o e Diferenciac\u0327a\u0303o do Sexo, Faculdade de Cie\u0302ncias Me\u0301dicas, UNICAMP, 13083-970 Campinas, Sa\u0303o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maricilda Palandi","family":"de Mello","sequence":"additional","affiliation":[{"name":"Grupo Interdisciplinar de Estudos da Determinac\u0327a\u0303o e Diferenciac\u0327a\u0303o do Sexo, Faculdade de Cie\u0302ncias Me\u0301dicas, UNICAMP, 13083-970 Campinas, Sa\u0303o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernanda Boechers","family":"Coeli","sequence":"additional","affiliation":[{"name":"Grupo Interdisciplinar de Estudos da Determinac\u0327a\u0303o e Diferenciac\u0327a\u0303o do Sexo, Faculdade de Cie\u0302ncias Me\u0301dicas, UNICAMP, 13083-970 Campinas, Sa\u0303o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcelo Lima","family":"Ribeiro","sequence":"additional","affiliation":[{"name":"Grupo Interdisciplinar de Estudos da Determinac\u0327a\u0303o e Diferenciac\u0327a\u0303o do Sexo, Faculdade de Cie\u0302ncias Me\u0301dicas, UNICAMP, 13083-970 Campinas, Sa\u0303o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ma\u0301rcio Lopes","family":"Miranda","sequence":"additional","affiliation":[{"name":"Grupo Interdisciplinar de Estudos da Determinac\u0327a\u0303o e Diferenciac\u0327a\u0303o do Sexo, Faculdade de Cie\u0302ncias Me\u0301dicas, UNICAMP, 13083-970 Campinas, Sa\u0303o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonia Paula","family":"Marques-de-Faria","sequence":"additional","affiliation":[{"name":"Grupo Interdisciplinar de Estudos da Determinac\u0327a\u0303o e Diferenciac\u0327a\u0303o do Sexo, Faculdade de Cie\u0302ncias Me\u0301dicas, UNICAMP, 13083-970 Campinas, Sa\u0303o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Tereza Matias","family":"Baptista","sequence":"additional","affiliation":[{"name":"Grupo Interdisciplinar de Estudos da Determinac\u0327a\u0303o e Diferenciac\u0327a\u0303o do Sexo, Faculdade de Cie\u0302ncias Me\u0301dicas, UNICAMP, 13083-970 Campinas, Sa\u0303o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzana Guimara\u0303es","family":"Moraes","sequence":"additional","affiliation":[{"name":"Grupo Interdisciplinar de Estudos da Determinac\u0327a\u0303o e Diferenciac\u0327a\u0303o do Sexo, Faculdade de Cie\u0302ncias Me\u0301dicas, UNICAMP, 13083-970 Campinas, Sa\u0303o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gil","family":"Guerra-Ju\u0301nior","sequence":"additional","affiliation":[{"name":"Grupo Interdisciplinar de Estudos da Determinac\u0327a\u0303o e Diferenciac\u0327a\u0303o do Sexo, Faculdade de Cie\u0302ncias Me\u0301dicas, UNICAMP, 13083-970 Campinas, Sa\u0303o Paulo, Brasil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","reference":[{"key":"key\n\t\t\t\t2019041113555106200_R1","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1038\/346240a0","article-title":"A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif.","volume":"346","author":"Sinclair","year":"1990","journal-title":"Nature"},{"key":"key\n\t\t\t\t2019041113555106200_R2","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1146\/annurev.physiol.61.1.417","article-title":"Gene interactions in gonadal development.","volume":"61","author":"Parker","year":"1999","journal-title":"Annu Rev Physiol"},{"key":"key\n\t\t\t\t2019041113555106200_R3","first-page":"753","article-title":"Summary of consensus statement on intersex disorders and their management. International Intersex Consensus Conference.","volume-title":"Pediatrics","author":"Houk","year":"2006"},{"key":"key\n\t\t\t\t2019041113555106200_R4","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1007\/BF00284157","article-title":"Etiology of maleness in XX men.","volume":"58","author":"De La Chapelle","year":"1981","journal-title":"Hum Genet"},{"key":"key\n\t\t\t\t2019041113555106200_R5","first-page":"690","article-title":"The role of the sex-determining region Y gene in the etiology of 46,XX maleness.","volume":"76","author":"Fechner","year":"1993","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113555106200_R6","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1007\/BF00208942","article-title":"Genotype-phenotype correlations in XX males and their bearing on current theories of sex determination.","volume":"84","author":"Fergusson-Smith","year":"1990","journal-title":"Hum Genet"},{"key":"key\n\t\t\t\t2019041113555106200_R7","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1007\/BF02000779","article-title":"True hermaphroditism: geographical distribution, clinical findings, chromosomes and gonadal histology.","volume":"153","author":"Krob","year":"1994","journal-title":"Eur J Pediatr"},{"key":"key\n\t\t\t\t2019041113555106200_R8","doi-asserted-by":"crossref","first-page":"606","DOI":"10.1007\/s004390050561","article-title":"Two SRY-negative XX male brothers without genital ambiguity.","volume":"100","author":"Zenteno","year":"1997","journal-title":"Hum Genet"},{"key":"key\n\t\t\t\t2019041113555106200_R9","first-page":"375","article-title":"Familial case of 46 XX male and 46 XX true hermaphrodite associated with a paternal-derived SRY-bearing X chromosome.","volume":"316","author":"Abbas","year":"1993","journal-title":"CR Acad Sci III"},{"key":"key\n\t\t\t\t2019041113555106200_R10","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1210\/jcem.85.2.6418","article-title":"Familial sex reversal: a review.","volume":"85","author":"Sarafoglou","year":"2000","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113555106200_R11","author":"Sambrook","year":"1989"},{"key":"key\n\t\t\t\t2019041113555106200_R12","first-page":"862","article-title":"Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers.","volume":"56","author":"Schmitt-Ney","year":"1995","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t2019041113555106200_R13","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1007\/BF00215684","article-title":"Mutational analysis of SRY, nonsense and missense mutations in XY sex reversal.","volume":"88","author":"Hawkins","year":"1992","journal-title":"Hum Genet"},{"key":"key\n\t\t\t\t2019041113555106200_R14","first-page":"530","article-title":"New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism.","volume":"81","author":"Yanase","year":"1996","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113555106200_R15","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1093\/molehr\/gal030","article-title":"SRY-negative 46,XX male with normal genitals, complete masculinization and infertility.","volume":"12","author":"Rajender","year":"2006","journal-title":"Mol Hum Reprod"},{"key":"key\n\t\t\t\t2019041113555106200_R16","doi-asserted-by":"crossref","first-page":"467","DOI":"10.2169\/internalmedicine.37.467","article-title":"A rare case of 46,XX true hermaphroditism with hidden mosaicism with sex-determining region Y chromosome-bearing cells in the gonads.","volume":"37","author":"Inoue","year":"1998","journal-title":"Intern Med"},{"key":"key\n\t\t\t\t2019041113555106200_R17","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1002\/1096-8628(20000828)93:5<417::AID-AJMG13>3.0.CO;2-S","article-title":"Partially deleted SRY gene confined to testicular tissue in a 46,XX true hermaphrodite without SRY in leukocytic DNA.","volume":"93","author":"Jimenez","year":"2000","journal-title":"Am J Med Genet"},{"key":"key\n\t\t\t\t2019041113555106200_R18","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1159\/000185438","article-title":"Report of an XX male with hypospadias and pubertal gynecomastia, SRY gene negative in blood leukocytes but SRY gene positive in testicular cells.","volume":"47","author":"Dardis","year":"1997","journal-title":"Horm Res"},{"key":"key\n\t\t\t\t2019041113555106200_R19","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1038\/ng1141","article-title":"Dax1 is required for testis determination.","volume":"34","author":"Meeks","year":"2003","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t2019041113555106200_R20","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1038\/nrg1381","article-title":"One tissue, two fates: molecular genetic events that underlie testis versus ovary development.","volume":"5","author":"Brennan","year":"2004","journal-title":"Nat Rev Genet"},{"key":"key\n\t\t\t\t2019041113555106200_R21","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1038\/ng0894-497","article-title":"A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal.","volume":"7","author":"Bardoni","year":"1994","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t2019041113555106200_R22","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1038\/372635a0","article-title":"An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita.","volume":"372","author":"Zanaria","year":"1994","journal-title":"Nature"},{"key":"key\n\t\t\t\t2019041113555106200_R23","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1016\/0092-8674(94)90041-8","article-title":"Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9.","volume":"79","author":"Wagner","year":"1994","journal-title":"Cell"},{"key":"key\n\t\t\t\t2019041113555106200_R24","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1002\/(SICI)1096-8628(19991203)87:4<349::AID-AJMG13>3.0.CO;2-N","article-title":"Autosomal XX sex reversal caused by duplication of SOX9.","volume":"87","author":"Huang","year":"1999","journal-title":"Am J Med Genet"},{"key":"key\n\t\t\t\t2019041113555106200_R25","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/90046","article-title":"Sox9 induces testis development in XX transgenic mice.","volume":"28","author":"Vidal","year":"2001","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t2019041113555106200_R26","doi-asserted-by":"crossref","first-page":"1221","DOI":"10.1093\/hmg\/ddi133","article-title":"Sox9 is sufficient for functional testis development producing fertile male mice in the absence of Sry.","volume":"14","author":"Qin","year":"2005","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t2019041113555106200_R27","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1016\/j.jtbi.2004.02.001","article-title":"The elusive action of sex-determining genes: mitochondria to the rescue?","volume":"228","author":"Mittwoch","year":"2004","journal-title":"J Theor Biol"},{"key":"key\n\t\t\t\t2019041113555106200_R28","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1002\/bies.950191113","article-title":"Does sex determination begin at conception?","volume":"19","author":"Erickson","year":"1997","journal-title":"BioEssays"}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/93\/2\/339\/10418017\/jcem0339.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,5]],"date-time":"2019-05-05T10:54:36Z","timestamp":1557053676000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/93\/2\/339\/2597930"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,2,1]]},"references-count":28,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2008,2,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jc.2007-1115","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,2,1]]}}}